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Variant : CV614617 (Single allele) Homo sapiens

Symbol: CV614617
Name: Single allele
Condition: not provided [RCV000768452]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAM28   ADAM7   ADAMDEC1   ADRA1A   ASAH1   ATP6V1B2   BIN3   BMP1   BNIP3L   C8orf48   C8orf58   CCAR2   CCDC25   CDCA2   CHMP7   CHRNA2   CLU   CNOT7   CSGALNACT1   DCTN6   DLC1   DMTN   DOCK5   DOK2   DPYSL2   DUSP26   DUSP4   EBF2   EGR3   ELP3   ENTPD4   EPHX2   ESCO2   EXTL3   FAM160B2   FBXO16   FGF17   FGF20   FGL1   FUT10   FZD3   GFRA2   GNRH1   GSR   GTF2E2   HMBOX1   HR   INTS10   INTS9   KCTD9   KIF13B   LEPROTL1   LGI3   LONRF1   LOXL2   LPL   LZTS1   MAK16   MBOAT4   MICU3   MIR320A   MSR1   MTMR7   MTUS1   NAT1   NAT2   NEFL   NEFM   NKX2-6   NKX3-1   NPM2   NRG1   NUDT18   NUGGC   PBK   PCM1   PDGFRL   PDLIM2   PEBP4   PHYHIP   PIWIL2   PNMA2   PNOC   POLR3D   PPP2CB   PPP2R2A   PPP3CC   PSD3   PTK2B   PURG   R3HCC1   RBPMS   REEP4   RHOBTB2   RNF122   SARAF   SCARA3   SCARA5   SFTPC   SGCZ   SH2D4A   SLC18A1   SLC25A37   SLC39A14   SLC7A2   SMIM18   SORBS3   STC1   STMN4   TEX15   TNFRSF10A   TNFRSF10B   TNFRSF10C   TNFRSF10D   TRIM35   TRMT9B   TTI2   TUSC3   UBXN8   UNC5D   VPS37A   WRN   XPO7   ZDHHC2   ZNF395  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: case-control
Position
Human AssemblyChrPosition (strand)Source
GRCh37812,546,855 - 35,816,855CLINVAR
Cytogenetic Map88p23.1-12CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14399334
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.